| A Case of Glycogen Storage Disease Type Ⅰb |
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Ji Young Rhou1, Eun Yae Park1, Kyung Hee Kim1, Su Yeun Jo2, Hye Su Koo2 |
1Department of Pediatrics, Ewah Womans University College of Medicine, Seoul, Korea
2Department of Anatomical Pathology Ewah Womans University College of Medicine, Seoul, Korea |
| 당원병 Ⅰ형 1례 |
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류지영1, 박은애1, 김경희1, 조수연2, 구혜수2 |
1이화여자대학교 의과대학 소아과학교실
2이화여자대학교 의과대학 해부병리학교실 |
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| Abstract |
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Glycogen storage disease(GSD) type Ⅰis due to defect of glycose-6-phosphatase at the membrane of the endoplasmic reticulum in liver. Clinical presentations of GSD 1 are massive hepatomegaly without splenomegaly, failure to thrive, bleeding tendency, hypoglycemia, fasting ketosis and hyperlipidemia. The appearance of patient is short and fat with particularly fat cheeks. Mental development is usually normal. It was diagnosed by liver biopsy and cofirmend as GSD type Ⅰby enzyme analysis. We have experienced a case of GSD type Ⅰand reported with brief review of literatures. |
| Key Words:
GSD(Glycogen storage disease), Enzyme analysis |
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